DISEASE SCANNER
Global Incurable Diseases Tracker
Congenital Diaphragmatic Hernia (CDH)
A birth defect where the diaphragm fails to form completely, allowing abdominal organs to move into the chest and compress lungs. Causes pulmonary hypoplasia and pulmonary hypertension. Life-threatening condition requiring immediate intervention.
35.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Variable by severity. Survival 70-90% overall. Severe cases: 50% survival. Long-term complications: pulmonary hypertension, gastroesophageal reflux, hearing loss. Most survivors have good quality of life.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Fetal intervention (tracheal occlusion) for severe cases. Immediate resuscitation and ventilation. ECMO support. Surgical repair when stable. Survival 70-80% overall; <50% for severe cases. Long-term respiratory and GI follow-up.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.